Varaico: Literature-Extracted Genetic Variants

PMS1

554 papers

RefSeq Summary

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a kno...

Pfam Domains

HATPase_caa 17–151UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

HATPase_c_3aa 18–137UCSCHistidine kinase-, DNA gyrase B-, and HSP90-like ATPase

DNA_mis_repairaa 210–337UCSCDNA mismatch repair protein, C-terminal domain

HMG_boxaa 571–638UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

PMS1 homolog 1, mismatch repair system component

HGNC Previous Symbol

PMSL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000534.5

p.L524_C526del0

c.1571_1576del6

Surrounding Variants

1 paper

NM_000534.5

p.L524_V528del5

c.1570_1583del15

1 paper

NM_000534.5

p.S523N

c.1568G>A

2 papers

NM_000534.5

p.E521*

c.1561G>T

2 papers

NM_000534.5

p.E521delins

c.1561_1562delinsTG

1 paper

NM_000534.5

p.V528I

c.1582G>A

1 paper

NM_000534.5

p.S529insFs

c.1585_1586insC

2 papers

NM_000534.5

p.S529N

c.1586G>A

2 papers

NM_000534.5

p.N530H

c.1588A>C

1 paper

NM_000534.5

p.N530S

c.1589A>G

1 paper

NM_000534.5

p.N511ins1

c.1532_1533insTAT

1 paper

NM_000534.5

p.N511D

c.1531A>G

10 papers

NM_000534.5

p.E537K

c.1609G>A